SMA5
The SMA5 Gene: Unraveling the Mystery of Spinal Muscular Atrophy
Description
The SMN5 gene is an essential component of the survival of motor neuron (SMN) protein. SMN is crucial for the maintenance of motor neuron function, which controls voluntary movement. Mutations or deletions in the SMN5 gene lead to a significant reduction in SMN protein levels, resulting in spinal muscular atrophy (SMA), a debilitating neuromuscular disorder.
Associated Diseases
SMA5 is a specific type of SMA that is caused by specific mutations in the SMN5 gene. The most common mutation is an intronic deletion of 450 base pairs, which leads to a dysfunctional SMN protein. SMA5 is classified into four different types based on the severity of symptoms:
- SMA5q: Infants with severe muscle weakness and respiratory problems
- SMA5i: Slightly milder than SMA5q, with onset in late childhood or adolescence
- SMA5r: Characterized by progressive muscle weakness and atrophy in adults
- SMA5c: Mildest form, with symptoms manifesting in adulthood
Did you Know ?
SMA5 accounts for approximately 5-10% of all cases of SMA worldwide. It is more prevalent in certain populations, such as the Amish and Hutterite communities.
